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Author/Creator Pajdowska, Magdalena

1. A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. Issue 6 (7th July 2017)

Authors:
Pronicka, Ewa; Ropacka‐Lesiak, Mariola; Trubicka, Joanna; Pajdowska, Magdalena; Linke, Markus; Ostergaard, Elsebet; Saunders, Carol; Horsch, Sandra; van Karnebeek, Clara; Yaplito‐Lee, Joy; Distelmaier, Felix; Õunap, Katrin; Rahman, Shamima; Castelle, Martin; Kelleher, John; Baris, Safa; Iwanicka‐...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 40:Issue 6(2017)
Page Start:
853
Record Type:
Journal Article
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2. Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland. (June 2019)

Authors:
Iwanicka-Pronicka, Katarzyna; Ciara, Elżbieta; Piekutowska-Abramczuk, Dorota; Halat, Paulina; Pajdowska, Magdalena; Pronicki, Maciej
Journal:
International journal of pediatric otorhinolaryngology
Issue:
Volume 121(2019:Jun.)
Page Start:
143
Record Type:
Journal Article
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3. Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome. Issue 6 (30th January 2013)

Authors:
Karkucinska‐Wieckowska, Agnieszka; Trubicka, Joanna; Werner, Bozena; Kokoszynska, Katarzyna; Pajdowska, Magdalena; Pronicki, Maciej; Czarnowska, Elzbieta; Lebiedzinska, Magdalena; Sykut‐Cegielska, Jolanta; Ziolkowska, Lidia; Jaron, Weronika; Dobrzanska, Anna; Ciara, Elzbieta; Wieckowski, Mariusz ...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 36:Issue 6(2013)
Page Start:
929
Record Type:
Journal Article
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4. New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. Issue 1 (December 2016)

Authors:
Pronicka, Ewa; Piekutowska-Abramczuk, Dorota; Ciara, Elżbieta; Trubicka, Joanna; Rokicki, Dariusz; Karkucińska-Więckowska, Agnieszka; Pajdowska, Magdalena; Jurkiewicz, Elżbieta; Halat, Paulina; Kosińska, Joanna; Pollak, Agnieszka; Rydzanicz, Małgorzata; Stawinski, Piotr; Pronicki, Maciej; Krajews...
Journal:
Journal of translational medicine
Issue:
Volume 14:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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6. Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Issue 6 (20th December 2017)

Authors:
Maas, Roeltje R.; Iwanicka‐Pronicka, Katarzyna; Kalkan Ucar, Sema; Alhaddad, Bader; AlSayed, Moeenaldeen; Al‐Owain, Mohammed A.; Al‐Zaidan, Hamad I.; Balasubramaniam, Shanti; Barić, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; F...
Journal:
Annals of neurology
Issue:
Volume 82:Issue 6(2017)
Page Start:
1004
Record Type:
Journal Article
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